Micu1 mitochondrial calcium uptake 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Micu1provided by MGI
Official Full Name: mitochondrial calcium uptake 1provided by MGI
Primary source: MGI:MGI:2384909
See related: Ensembl:ENSMUSG00000020111 AllianceGenome:MGI:2384909
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Calc; Cbara1; C730016L05Rik
Summary: Enables calcium ion binding activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and positive regulation of cristae formation. Located in mitochondrial intermembrane space. Part of calcium channel complex. Is active in mitochondrial inner membrane. Is expressed in several structures, including genitourinary system; liver; nervous system; parathyroid gland; and respiratory system. Human ortholog(s) of this gene implicated in myopathy with extrapyramidal signs. Orthologous to human MICU1 (mitochondrial calcium uptake 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in large intestine adult (RPKM 46.0), duodenum adult (RPKM 43.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 29.6 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (59538385..59699956)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (59702563..59864134)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MICU1 and MICU2 control mitochondrial calcium signaling in the mammalian heart.
Title: MICU1 and MICU2 control mitochondrial calcium signaling in the mammalian heart.
SEPSIS LEADS TO IMPAIRED MITOCHONDRIAL CALCIUM UPTAKE AND SKELETAL MUSCLE WEAKNESS BY REDUCING THE MICU1:MCU PROTEIN RATIO.
Title: SEPSIS LEADS TO IMPAIRED MITOCHONDRIAL CALCIUM UPTAKE AND SKELETAL MUSCLE WEAKNESS BY REDUCING THE MICU1:MCU PROTEIN RATIO.
Endothelial MICU1 alleviates diabetic cardiomyopathy by attenuating nitrative stress-mediated cardiac microvascular injury.
Title: Endothelial MICU1 alleviates diabetic cardiomyopathy by attenuating nitrative stress-mediated cardiac microvascular injury.
MICU1 regulates mitochondrial cristae structure and function independently of the mitochondrial Ca[2+] uniporter channel.
Title: MICU1 regulates mitochondrial cristae structure and function independently of the mitochondrial Ca(2+) uniporter channel.
Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
Title: Mechanisms and significance of tissue-specific MICU regulation of the mitochondrial calcium uniporter complex.
Effects of MICU1-Mediated Mitochondrial Calcium Uptake on Energy Metabolism and Quality of Vitrified-Thawed Mouse Metaphase II Oocytes.
Title: Effects of MICU1-Mediated Mitochondrial Calcium Uptake on Energy Metabolism and Quality of Vitrified-Thawed Mouse Metaphase II Oocytes.
SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells.
Title: SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells.
Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
Title: Uncontrolled mitochondrial calcium uptake underlies the pathogenesis of neurodegeneration in MICU1-deficient mice and patients.
MICU1-dependent mitochondrial calcium uptake regulates lung alveolar type 2 cell plasticity and lung regeneration.
Title: MICU1-dependent mitochondrial calcium uptake regulates lung alveolar type 2 cell plasticity and lung regeneration.
Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.
Title: Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (9) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cyp27b1 (e-PCR), detects polymorphism
- UniSTS:546718

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel inhibitor activity	IEA Inferred from Electronic Annotation more info
enables calcium channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion sensor activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion sensor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in calcium import into the mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium import into the mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium import into the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium import into the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in calcium import into the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in calcium ion import	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion starvation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial calcium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cristae formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cristae formation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular hyperosmotic salinity response	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular hyperosmotic salinity response	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial crista junction	IEA Inferred from Electronic Annotation more info
located_in mitochondrial crista junction	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of uniplex complex	IBA Inferred from Biological aspect of Ancestor more info
part_of uniplex complex	ISO Inferred from Sequence Orthology more info
part_of uniplex complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: calcium uptake protein 1, mitochondrial

Names: calcium binding atopy-related autoantigen 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291442.1 → NP_001278371.1 calcium uptake protein 1, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_001278371.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).

Source sequence(s)

AC155827, AC155939, AK046049

Consensus CDS

CCDS78817.1

UniProtKB/Swiss-Prot

Q8VCX5

Related

ENSMUSP00000020311.7, ENSMUST00000020311.13

Conserved Domains (1) summary

pfam13202
Location:231 → 254

EF-hand_5; EF hand
NM_001291443.1 → NP_001278372.1 calcium uptake protein 1, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001278372.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AC155827, AC155939, BC023022

Consensus CDS

CCDS78818.1

UniProtKB/Swiss-Prot

Q8VCX5

Related

ENSMUSP00000090166.6, ENSMUST00000092508.12

Conserved Domains (1) summary

pfam13202
Location:229 → 252

EF-hand_5; EF hand
NM_001359267.1 → NP_001346196.1 calcium uptake protein 1, mitochondrial isoform 4

Status: VALIDATED

Source sequence(s)

AC155827, AC155939, AK050113, CX240738

Conserved Domains (1) summary

cd16173
Location:226 → 445

EFh_MICU1; EF-hand, calcium binding motif, found in calcium uptake protein 1, mitochondrial (MICU1) and similar proteins
NM_144822.3 → NP_659071.1 calcium uptake protein 1, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_659071.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AC155827, AC155939, AK050113

Consensus CDS

CCDS35909.1

UniProtKB/Swiss-Prot

Q8BK07, Q8BL84, Q8R1W0, Q8VCX5

Related

ENSMUSP00000126597.2, ENSMUST00000165563.8

Conserved Domains (1) summary

pfam13202
Location:225 → 248

EF-hand_5; EF hand

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

59538385..59699956

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155734.1 → XP_036011627.1 calcium uptake protein 1, mitochondrial isoform X1

Conserved Domains (2) summary

cd15900
Location:49 → 79

EFh_MICU; EF-hand motif [structural motif]

cl28896
Location:1 → 213

EFh_MICU; EF-hand, calcium binding motif, found in mitochondrial calcium uptake proteins MICU1, MICU2, MICU3, and similar proteins